Mutagenetix > Incidental Mutation

Incidental Mutation 'R3124:Dcaf8l'

264217

Institutional Source

Beutler Lab

Gene Symbol

Dcaf8l

Ensembl Gene

ENSMUSG00000035395

Gene Name

DDB1 and CUL4 associated factor 8 like

Synonyms

PC231, PC326, Pet2, Pex3

MMRRC Submission

040597-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R3124 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

88447454-88453295 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88448327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 601 (Y601N)

Ref Sequence

ENSEMBL: ENSMUSP00000109593 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113959] [ENSMUST00000113960]

AlphaFold

A2AHY8

Predicted Effect

probably benign
Transcript: ENSMUST00000113959
AA Change: Y601N

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000109592
Gene: ENSMUSG00000035395
AA Change: Y601N

Domain	Start	End	E-Value	Type
low complexity region	80	96	N/A	INTRINSIC
low complexity region	144	153	N/A	INTRINSIC
low complexity region	180	192	N/A	INTRINSIC
low complexity region	202	217	N/A	INTRINSIC
low complexity region	271	286	N/A	INTRINSIC
WD40	342	381	2.67e-9	SMART
WD40	384	426	8.91e-1	SMART
Blast:WD40	432	472	4e-19	BLAST
WD40	478	520	1.65e1	SMART
WD40	535	575	7.4e0	SMART
WD40	581	623	1.28e0	SMART
WD40	626	666	2.61e-3	SMART
low complexity region	729	740	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113960
AA Change: Y601N

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000109593
Gene: ENSMUSG00000035395
AA Change: Y601N

Domain	Start	End	E-Value	Type
low complexity region	80	96	N/A	INTRINSIC
low complexity region	144	153	N/A	INTRINSIC
low complexity region	180	192	N/A	INTRINSIC
low complexity region	202	217	N/A	INTRINSIC
low complexity region	271	286	N/A	INTRINSIC
WD40	342	381	2.67e-9	SMART
WD40	384	426	8.91e-1	SMART
Blast:WD40	432	472	4e-19	BLAST
WD40	478	520	1.65e1	SMART
WD40	535	575	7.4e0	SMART
WD40	581	623	1.28e0	SMART
WD40	626	666	2.61e-3	SMART
low complexity region	729	740	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16b	G	A	2: 181,136,319 (GRCm39)	R407H	possibly damaging	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Cadm1	A	G	9: 47,710,775 (GRCm39)	E226G	possibly damaging	Het
Caskin2	T	C	11: 115,695,623 (GRCm39)	D246G	probably damaging	Het
Cd80	T	A	16: 38,294,255 (GRCm39)	V46E	probably damaging	Het
Ctr9	C	T	7: 110,652,653 (GRCm39)	R984C	unknown	Het
Dach2	T	C	X: 112,729,664 (GRCm39)	I417T	possibly damaging	Het
Drd3	T	C	16: 43,643,155 (GRCm39)	F464L	probably damaging	Het
Dyrk1a	G	A	16: 94,469,660 (GRCm39)		probably benign	Het
Fam227b	T	C	2: 125,966,006 (GRCm39)	T140A	probably benign	Het
Fam91a1	A	G	15: 58,293,738 (GRCm39)	I101V	probably benign	Het
Fem1b	T	C	9: 62,703,836 (GRCm39)	I475V	probably benign	Het
Glra3	A	G	8: 56,578,244 (GRCm39)	R434G	possibly damaging	Het
Hsd17b12	C	T	2: 93,864,303 (GRCm39)	R268Q	probably benign	Het
Iglc3	T	C	16: 18,884,345 (GRCm39)		probably benign	Het
Khdrbs2	C	A	1: 32,558,858 (GRCm39)	R408L	probably damaging	Het
Loxhd1	A	G	18: 77,518,774 (GRCm39)	D1860G	probably damaging	Het
Mcpt8	A	T	14: 56,321,398 (GRCm39)	I22K	probably damaging	Het
Myo1h	A	G	5: 114,466,860 (GRCm39)	I303V	probably benign	Het
Nipsnap2	G	A	5: 129,825,098 (GRCm39)		probably null	Het
Nop2	G	A	6: 125,109,164 (GRCm39)		probably benign	Het
Polr2a	A	T	11: 69,626,536 (GRCm39)	S1566T	possibly damaging	Het
Pthlh	A	T	6: 147,164,789 (GRCm39)	V27E	probably damaging	Het
Ralgps1	T	C	2: 33,048,968 (GRCm39)	T314A	possibly damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Skil	A	G	3: 31,151,487 (GRCm39)	N3S	probably benign	Het
Tas2r129	A	G	6: 132,928,411 (GRCm39)	N116S	probably damaging	Het
Tas2r140	T	A	6: 133,032,204 (GRCm39)	I185L	probably benign	Het
Tnpo1	GCACCTCTGCTTCCTC	GCACCTCTGCTTCCTCACCTCTGCTTCCTC	13: 99,003,637 (GRCm39)		probably null	Het
Togaram1	G	T	12: 65,013,118 (GRCm39)	R123L	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trim12a	G	T	7: 103,950,063 (GRCm39)	T292K	probably benign	Het
Trim9	C	T	12: 70,295,167 (GRCm39)	G648R	probably damaging	Het
Trmt13	T	C	3: 116,383,893 (GRCm39)	I104V	probably benign	Het
Vav3	G	A	3: 109,535,484 (GRCm39)		probably null	Het
Vmn1r87	A	G	7: 12,865,493 (GRCm39)	Y265H	probably damaging	Het
Zfp574	G	T	7: 24,781,026 (GRCm39)	A683S	possibly damaging	Het

Other mutations in Dcaf8l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00469:Dcaf8l	APN	X	88,449,944 (GRCm39)	missense	possibly damaging	0.86
IGL03064:Dcaf8l	APN	X	88,448,857 (GRCm39)	missense	possibly damaging	0.95
R0401:Dcaf8l	UTSW	X	88,448,815 (GRCm39)	missense	probably benign	0.01
R0612:Dcaf8l	UTSW	X	88,448,972 (GRCm39)	nonsense	probably null
R2146:Dcaf8l	UTSW	X	88,449,883 (GRCm39)	missense	possibly damaging	0.85
R2148:Dcaf8l	UTSW	X	88,449,883 (GRCm39)	missense	possibly damaging	0.85
R3123:Dcaf8l	UTSW	X	88,448,327 (GRCm39)	missense	probably benign	0.01
R3125:Dcaf8l	UTSW	X	88,448,327 (GRCm39)	missense	probably benign	0.01
Z1088:Dcaf8l	UTSW	X	88,449,943 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- CATTCTTTAAGCCGGCAAGC -3'
(R):5'- TTAGCTCTGATTACCCAGCACAC -3'

Sequencing Primer
(F):5'- TCATGGTCTAGCCCACTGGATG -3'
(R):5'- TTACCCAGCACACATCACATCTCTG -3'

Posted On

2015-02-05